Pediatric Cardiology

, Volume 39, Issue 5, pp 906–910 | Cite as

22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels

  • Laura Mercer-Rosa
  • Okan U. Elci
  • Nelangi M. Pinto
  • Ronn E. Tanel
  • Elizabeth Goldmuntz
Original Article


Deletion of 22q11.2 (del22q11) is associated with adverse outcomes in patients with tetralogy of Fallot (TOF). We sought to investigate its contribution to perioperative outcome in patients with a severe form of TOF characterized by pulmonary atresia (PA) or severe pulmonary stenosis (PS) and major aortopulmonary collateral arteries (MAPCAS). We conducted a retrospective review of patients with TOF/MAPCAS who underwent staged surgical reconstruction between 1995 and 2006. Groups were compared according to 22q11.2 deletion status using t-tests or the Wilcoxon Rank sum test. We included 26 subjects, 24 of whom survived the initial operation. Of those, 21 subjects had known deletion status and constitute the group for this analysis [15 with no deletion present (ND) and 6 del22q11 subjects]. There was no difference with respect to occurrence of palliative procedure prior to initial operation, or to timing of closure of the ventricular septal defect (VSD). Other than higher prevalence of prematurity (50%) in the del22q11 group versus no prematurity in the ND, the groups were comparable in terms of pre-operative characteristics. The intra- and post-operative course outcomes (length of cardiopulmonary bypass, use of vasopressors, duration of intensive care and length of hospital stay, tube-feeding) were also comparable. Although the del22q11 had longer mechanical ventilation than the ND, this difference was not significant [68 h (range 4–251) vs. 45 h (range 3–1005), p = 0.81]. In this detailed comparison of a small patient cohort, 22q11.2 deletion syndrome was not associated with adverse perioperative outcomes in patients with TOF, PA, and MAPCAS when compared to those without 22q11.2 deletion syndrome. These results are relevant to prenatal and neonatal pre-operative counseling and planning.


Tetralogy of Fallot DiGeorge syndrome 22q11.2 deletion Aortopulmonary collateral vessels Outcome 



We would like to thank Sharon M. Edman, MS, for her extensive work in data organization and management.


This work was supported by NHLBI P50-HL74731, U01HL098153, and K01HL125521.

Compliance with Ethical Standards

Conflict of interest

Laura Mercer-Rosa, Okan U. Elci, Nelangi M. Pinto, Ronn E. Tanel and Elizabeth Goldmuntz declare that they have no conflict of interest.


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© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Division of Cardiology, Department of PediatricsThe Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of PennsylvaniaPhiladelphiaUSA
  2. 2.Westat-Biostatistics and Data Management CoreThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA
  3. 3.Division of Pediatric Cardiology, Department of PediatricsUniversity of UtahSalt Lake CityUSA
  4. 4.Department of Pediatric CardiologyUniversity of California, San FranciscoSan FranciscoUSA

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